31 citations,
June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
10 citations,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
[object Object] 308 citations,
December 2018 in “PLOS Genetics” The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.
14 citations,
September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
5 citations,
May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
5 citations,
May 2011 in “Movement Disorders” Finasteride may help reduce tic severity in male Tourette syndrome patients.
17 citations,
May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
2 citations,
June 2021 in “Sultan Qaboos University medical journal” Familial frontal fibrosing alopecia is rare, mostly affects women, and often occurs between sisters or mother-daughter pairs.
39 citations,
May 2011 in “Movement Disorders” Finasteride may help reduce symptoms in male Tourette syndrome patients.
32 citations,
March 2021 in “Journal of endocrinological investigation” Thyroid hormones are important for skin health and changes in them can affect conditions like hair loss and eczema.
40 citations,
January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
1 citations,
May 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” The symposium highlighted the importance of understanding disease mechanisms for targeted dermatology treatments.
July 2003 in “Journal of Cutaneous Medicine and Surgery” Stopping certain drugs can improve skin conditions, arsenicosis affects over half of a Bangladeshi village, males are more vulnerable, and certain treatments are effective for warts, acne, and psoriasis. Smoking and drinking are linked to psoriasis in men, a cream helps with a type of skin cancer, and low iron levels don't directly cause chronic hair loss in women.
July 2003 in “Journal of Cutaneous Medicine and Surgery” Treating psoriasis with UVB light three times a week is faster than twice a week, and certain medications and lifestyle factors affect psoriasis treatment outcomes.
1 citations,
November 2016 in “Congenital Anomalies” Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
1 citations,
January 2021 in “Advances in animal and veterinary sciences” Pets in Egypt can pass skin fungus, especially Microsporum canis, to humans, with outdoor and young pets being more at risk.
48 citations,
February 2013 in “Molecular and Cellular Endocrinology” The protein StAR is found in 17 different organs and can affect hair loss and brain functions, but its full role is not yet fully understood.
26 citations,
December 2020 in “Nature metabolism” Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
144 citations,
November 2020 in “Frontiers in immunology” Targeting the IL-23/IL-17 pathway effectively treats several inflammatory skin diseases.
82 citations,
July 2012 in “Brain pathology” High LGR5 levels in glioblastoma indicate poor prognosis and are essential for cancer stem cell survival.
7 citations,
January 2023 in “Journal of Hematology & Oncology” Using protein degradation to fight cancer drug resistance shows promise but needs more precise targeting and fewer side effects.
76 citations,
May 2011 in “Liver transplantation” Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
[object Object] May 2017 in “American Society of Health-System Pharmacists eBooks” April 2024 in “Cell death and disease” Long COVID causes various long-term health issues and needs better awareness and treatment.
15 citations,
July 2017 in “Hormones” Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
January 2008 in “US endocrinology” Mutations in the glucocorticoid receptor gene cause reduced sensitivity to glucocorticoids and may lead to poor response to treatment.
30 citations,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
1 citations,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
9 citations,
February 2013 in “Hormone and Metabolic Research” Mutations in the CYP21A2 gene are not a major factor in causing PCOS.